Balance impairment in cerebrotendinous xanthomatosis: Ankle strategy deficit. A case study.

Matteo Cioni, Antonino Casabona, Annamaria Sapuppo, Giulia Messina, Agata Fiumara, Maria Stella Valle

Journal: Clinical biomechanics (Bristol, Avon) 2023;102():105896

PMID: 36706624

Full Text on Elsevier Science View on PubMed

Abstract

BACKGROUND

Cerebrotendinous xanthomatosis is a rare autosomal-recessive lipid storage disorder causing an elevation in cholestanol and cholesterol levels and their deposition in the central nervous system and tendons with consequent posture and gait disturbances.

METHODS

This report shows the case of a 36-year-old male affected by Cerebrotendinous xanthomatosis with static and dynamic instability. We aimed to provide an instrumented quantification of quiet upright standing using a piezoelectric force platform measuring the variations of center of pressure with the foot position 10 cm and 20 cm apart or extra-rotated with an opening angle of 30°, with eyes open or closed. The area of center of pressure and the length of its trajectory in the anterior-posterior and medial-lateral directions were computed. The temporal variability of center of pressure was evaluated by means of the Root Mean Square.

FINDINGS

In comparison with a control group, the area, the trajectory length of center of pressure in anterior-posterior and medial-lateral directions and the temporal variability increased in all static conditions. Intra-patient comparison showed that foot position 10 cm apart was the position that most influenced stability causing a marked worsening of area and trajectory length of center of pressure in both anterior-posterior and medial-lateral directions, particularly for the eyes closed condition.

INTERPRETATION

We found a large static instability due to internal neural and biomechanical constraints causing an insufficiency of ankle strategy. A physical therapy program based on instrumented proprioceptive exercises is to be implemented to teach the use of a hip strategy.

Address: Laboratory of Neurobiomechanics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy. Electronic address: [email protected].; Laboratory of Neurobiomechanics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy. Electronic address: [email protected].; Regional Referral Center for Metabolic Diseases, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy. Electronic address: [email protected].; Regional Referral Center for Metabolic Diseases, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy. Electronic address: [email protected].; Regional Referral Center for Metabolic Diseases, Pediatric Clinic, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy. Electronic address: [email protected].; Laboratory of Neurobiomechanics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy. Electronic address: [email protected].

DOI: 10.1016/j.clinbiomech.2023.105896

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MeSH Terms: Male, Humans, Adult, Xanthomatosis, Cerebrotendinous, Ankle, Tendons, Foot, Ankle Joint